Severe Silver‐Russell syndrome and translocation (17;20) (q25;q13)
- 1 January 1992
- journal article
- case report
- Published by Wiley in Clinical Genetics
- Vol. 41 (1) , 51-53
- https://doi.org/10.1111/j.1399-0004.1992.tb03630.x
Abstract
An 8-year-8-month-old girl with Silver-Russell syndrome (SRS) and a paternally inherited balanced t(17;20)(q25;q13) is described. This observation suggests that an SRS gene(s) maps on chromosome 17 or 20 and that the patient phenotype resulted from either unmasking of heterozygosity or genomic imprinting via paternal disomy.Keywords
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